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SLC4A11 mutations in Fuchs endothelial corneal dystrophy

16 Nov 2007

Abstract excerpt

The endothelial (posterior) corneal dystrophies, which result from primary endothelial dysfunction, include Fuchs endothelial corneal dystrophy (FECD), posterior polymorphous corneal dystrophy (PPCD) and congenital hereditary endothelial dystrophy (CHED). Mutations in SLC4A11 gene have been recently identified in patients with recessive CHED (CHED2). In this study, we show that heterozygous mutations in the...

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PMID: 18024964
DOI: 10.1093/hmg/ddm337

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